Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	29914
Gene name	UbiA prenyltransferase domain containing 1
Gene symbol	UBIAD1
Synonyms (NCBI Gene)	SCCDTERE1
Chromosome	1
Chromosome location	1p36.22
Summary	This gene encodes a protein thought to be involved in cholesterol and phospholipid metabolism. Mutations in this gene are associated with Schnyder crystalline corneal dystrophy. [provided by RefSeq, Oct 2008]

Show/Hide all (4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs118203949	A>G	Pathogenic	Missense variant, intron variant, coding sequence variant
rs118203952	G>A	Pathogenic	Non coding transcript variant, missense variant, intron variant, coding sequence variant
rs118203953	C>G,T	Pathogenic	Synonymous variant, missense variant, intron variant, coding sequence variant
rs397514669	G>A	Pathogenic	Coding sequence variant, missense variant, intron variant, non coding transcript variant

314

Show/Hide all (314)

miRTarBase ID	miRNA	Experiments	Reference
MIRT026804	hsa-miR-192-5p	Microarray	19074876
MIRT046775	hsa-miR-222-3p	CLASH	23622248
MIRT734970	hsa-miR-4644	Luciferase reporter assayWestern blottingqRT-PCR	33194029
MIRT1469853	hsa-miR-106a	CLIP-seq
MIRT1469854	hsa-miR-106b	CLIP-seq
MIRT1469855	hsa-miR-1207-5p	CLIP-seq
MIRT1469856	hsa-miR-1234	CLIP-seq
MIRT1469857	hsa-miR-1281	CLIP-seq
MIRT1469858	hsa-miR-1303	CLIP-seq
MIRT1469859	hsa-miR-1307	CLIP-seq
MIRT1469860	hsa-miR-1343	CLIP-seq
MIRT1469861	hsa-miR-146a	CLIP-seq
MIRT1469862	hsa-miR-146b-5p	CLIP-seq
MIRT1469863	hsa-miR-150	CLIP-seq
MIRT1469864	hsa-miR-17	CLIP-seq
MIRT1469865	hsa-miR-1827	CLIP-seq
MIRT1469866	hsa-miR-1976	CLIP-seq
MIRT1469867	hsa-miR-20a	CLIP-seq
MIRT1469868	hsa-miR-20b	CLIP-seq
MIRT1469869	hsa-miR-2276	CLIP-seq
MIRT1469870	hsa-miR-25	CLIP-seq
MIRT1469871	hsa-miR-302a	CLIP-seq
MIRT1469872	hsa-miR-302b	CLIP-seq
MIRT1469873	hsa-miR-302c	CLIP-seq
MIRT1469874	hsa-miR-302d	CLIP-seq
MIRT1469875	hsa-miR-302e	CLIP-seq
MIRT1469876	hsa-miR-3065-5p	CLIP-seq
MIRT1469877	hsa-miR-3120-5p	CLIP-seq
MIRT1469878	hsa-miR-3125	CLIP-seq
MIRT1469879	hsa-miR-3148	CLIP-seq
MIRT1469880	hsa-miR-3150a-3p	CLIP-seq
MIRT1469881	hsa-miR-3152-3p	CLIP-seq
MIRT1469882	hsa-miR-3175	CLIP-seq
MIRT1469883	hsa-miR-32	CLIP-seq
MIRT1469884	hsa-miR-325	CLIP-seq
MIRT1469885	hsa-miR-345	CLIP-seq
MIRT1469886	hsa-miR-3609	CLIP-seq
MIRT1469887	hsa-miR-3613-3p	CLIP-seq
MIRT1469888	hsa-miR-3622b-5p	CLIP-seq
MIRT1469889	hsa-miR-363	CLIP-seq
MIRT1469890	hsa-miR-3661	CLIP-seq
MIRT1469891	hsa-miR-367	CLIP-seq
MIRT1469892	hsa-miR-3688-3p	CLIP-seq
MIRT1469893	hsa-miR-372	CLIP-seq
MIRT1469894	hsa-miR-373	CLIP-seq
MIRT1469895	hsa-miR-3916	CLIP-seq
MIRT1469896	hsa-miR-3919	CLIP-seq
MIRT1469897	hsa-miR-3928	CLIP-seq
MIRT1469898	hsa-miR-411	CLIP-seq
MIRT1469899	hsa-miR-421	CLIP-seq
MIRT1469900	hsa-miR-4251	CLIP-seq
MIRT1469901	hsa-miR-4272	CLIP-seq
MIRT1469902	hsa-miR-4292	CLIP-seq
MIRT1469903	hsa-miR-4324	CLIP-seq
MIRT1469904	hsa-miR-4426	CLIP-seq
MIRT1469905	hsa-miR-4438	CLIP-seq
MIRT1469906	hsa-miR-4454	CLIP-seq
MIRT1469907	hsa-miR-450b-5p	CLIP-seq
MIRT1469908	hsa-miR-4522	CLIP-seq
MIRT1469909	hsa-miR-4638-5p	CLIP-seq
MIRT1469910	hsa-miR-4647	CLIP-seq
MIRT1469911	hsa-miR-4662a-5p	CLIP-seq
MIRT1469912	hsa-miR-4662b	CLIP-seq
MIRT1469913	hsa-miR-4667-5p	CLIP-seq
MIRT1469914	hsa-miR-4668-5p	CLIP-seq
MIRT1469915	hsa-miR-4695-3p	CLIP-seq
MIRT1469916	hsa-miR-4700-5p	CLIP-seq
MIRT1469917	hsa-miR-4714-5p	CLIP-seq
MIRT1469918	hsa-miR-4731-5p	CLIP-seq
MIRT1469919	hsa-miR-4756-3p	CLIP-seq
MIRT1469920	hsa-miR-4763-3p	CLIP-seq
MIRT1469921	hsa-miR-507	CLIP-seq
MIRT1469922	hsa-miR-5095	CLIP-seq
MIRT1469923	hsa-miR-512-3p	CLIP-seq
MIRT1469924	hsa-miR-519d	CLIP-seq
MIRT1469925	hsa-miR-520a-3p	CLIP-seq
MIRT1469926	hsa-miR-520b	CLIP-seq
MIRT1469927	hsa-miR-520c-3p	CLIP-seq
MIRT1469928	hsa-miR-520d-3p	CLIP-seq
MIRT1469929	hsa-miR-520e	CLIP-seq
MIRT1469930	hsa-miR-520g	CLIP-seq
MIRT1469931	hsa-miR-520h	CLIP-seq
MIRT1469932	hsa-miR-548ah	CLIP-seq
MIRT1469933	hsa-miR-557	CLIP-seq
MIRT1469934	hsa-miR-570	CLIP-seq
MIRT1469935	hsa-miR-589	CLIP-seq
MIRT1469936	hsa-miR-628-3p	CLIP-seq
MIRT1469937	hsa-miR-631	CLIP-seq
MIRT1469938	hsa-miR-877	CLIP-seq
MIRT1469939	hsa-miR-889	CLIP-seq
MIRT1469940	hsa-miR-92a	CLIP-seq
MIRT1469941	hsa-miR-92b	CLIP-seq
MIRT1469942	hsa-miR-93	CLIP-seq
MIRT1469943	hsa-miR-939	CLIP-seq
MIRT1469944	hsa-miR-940	CLIP-seq
MIRT2141328	hsa-miR-103b	CLIP-seq
MIRT2141329	hsa-miR-122	CLIP-seq
MIRT2141330	hsa-miR-1238	CLIP-seq
MIRT1469857	hsa-miR-1281	CLIP-seq
MIRT2141331	hsa-miR-1286	CLIP-seq
MIRT1469860	hsa-miR-1343	CLIP-seq
MIRT2141332	hsa-miR-185	CLIP-seq
MIRT1469869	hsa-miR-2276	CLIP-seq
MIRT2141333	hsa-miR-23a	CLIP-seq
MIRT2141334	hsa-miR-23b	CLIP-seq
MIRT2141335	hsa-miR-23c	CLIP-seq
MIRT2141336	hsa-miR-3117-5p	CLIP-seq
MIRT2141337	hsa-miR-3126-5p	CLIP-seq
MIRT2141338	hsa-miR-3135	CLIP-seq
MIRT2141339	hsa-miR-3153	CLIP-seq
MIRT2141340	hsa-miR-3198	CLIP-seq
MIRT1469885	hsa-miR-345	CLIP-seq
MIRT2141341	hsa-miR-361-3p	CLIP-seq
MIRT1469888	hsa-miR-3622b-5p	CLIP-seq
MIRT2141342	hsa-miR-3667-3p	CLIP-seq
MIRT2141343	hsa-miR-3688-5p	CLIP-seq
MIRT1469896	hsa-miR-3919	CLIP-seq
MIRT2141344	hsa-miR-3925-5p	CLIP-seq
MIRT2141345	hsa-miR-4261	CLIP-seq
MIRT2141346	hsa-miR-4306	CLIP-seq
MIRT2141347	hsa-miR-4309	CLIP-seq
MIRT2141348	hsa-miR-4318	CLIP-seq
MIRT2141349	hsa-miR-4422	CLIP-seq
MIRT2141350	hsa-miR-4427	CLIP-seq
MIRT2141351	hsa-miR-4428	CLIP-seq
MIRT2141352	hsa-miR-4436a	CLIP-seq
MIRT1469905	hsa-miR-4438	CLIP-seq
MIRT1469908	hsa-miR-4522	CLIP-seq
MIRT2141353	hsa-miR-4646-3p	CLIP-seq
MIRT1469914	hsa-miR-4668-5p	CLIP-seq
MIRT2141354	hsa-miR-4680-3p	CLIP-seq
MIRT1469915	hsa-miR-4695-3p	CLIP-seq
MIRT1469917	hsa-miR-4714-5p	CLIP-seq
MIRT2141355	hsa-miR-4719	CLIP-seq
MIRT2141356	hsa-miR-4726-3p	CLIP-seq
MIRT1469919	hsa-miR-4756-3p	CLIP-seq
MIRT2141357	hsa-miR-4775	CLIP-seq
MIRT2141358	hsa-miR-488	CLIP-seq
MIRT1469934	hsa-miR-570	CLIP-seq
MIRT2141359	hsa-miR-590-3p	CLIP-seq
MIRT2141360	hsa-miR-664	CLIP-seq
MIRT1469939	hsa-miR-889	CLIP-seq
MIRT1469943	hsa-miR-939	CLIP-seq
MIRT2141328	hsa-miR-103b	CLIP-seq
MIRT1469855	hsa-miR-1207-5p	CLIP-seq
MIRT2141329	hsa-miR-122	CLIP-seq
MIRT2141330	hsa-miR-1238	CLIP-seq
MIRT1469857	hsa-miR-1281	CLIP-seq
MIRT2141331	hsa-miR-1286	CLIP-seq
MIRT2362247	hsa-miR-1292	CLIP-seq
MIRT2362248	hsa-miR-1298	CLIP-seq
MIRT1469860	hsa-miR-1343	CLIP-seq
MIRT2362249	hsa-miR-140-3p	CLIP-seq
MIRT2362250	hsa-miR-149	CLIP-seq
MIRT2362251	hsa-miR-1913	CLIP-seq
MIRT2362252	hsa-miR-1914	CLIP-seq
MIRT1469866	hsa-miR-1976	CLIP-seq
MIRT1469869	hsa-miR-2276	CLIP-seq
MIRT2362253	hsa-miR-2355-3p	CLIP-seq
MIRT2362254	hsa-miR-27a	CLIP-seq
MIRT2362255	hsa-miR-27b	CLIP-seq
MIRT2362256	hsa-miR-3064-5p	CLIP-seq
MIRT2141336	hsa-miR-3117-5p	CLIP-seq
MIRT1469881	hsa-miR-3152-3p	CLIP-seq
MIRT2362257	hsa-miR-3152-5p	CLIP-seq
MIRT2141339	hsa-miR-3153	CLIP-seq
MIRT2362258	hsa-miR-3194-3p	CLIP-seq
MIRT2141340	hsa-miR-3198	CLIP-seq
MIRT2362259	hsa-miR-3199	CLIP-seq
MIRT2362260	hsa-miR-324-3p	CLIP-seq
MIRT2362261	hsa-miR-3591-3p	CLIP-seq
MIRT1469887	hsa-miR-3613-3p	CLIP-seq
MIRT2141341	hsa-miR-361-3p	CLIP-seq
MIRT1469888	hsa-miR-3622b-5p	CLIP-seq
MIRT2362262	hsa-miR-3660	CLIP-seq
MIRT2362263	hsa-miR-3670	CLIP-seq
MIRT2141343	hsa-miR-3688-5p	CLIP-seq
MIRT2362264	hsa-miR-3938	CLIP-seq
MIRT2362265	hsa-miR-4258	CLIP-seq
MIRT2141345	hsa-miR-4261	CLIP-seq
MIRT2362266	hsa-miR-4264	CLIP-seq
MIRT2362267	hsa-miR-4268	CLIP-seq
MIRT1469902	hsa-miR-4292	CLIP-seq
MIRT2362268	hsa-miR-4308	CLIP-seq
MIRT2141347	hsa-miR-4309	CLIP-seq
MIRT2362269	hsa-miR-431	CLIP-seq
MIRT2141348	hsa-miR-4318	CLIP-seq
MIRT2362270	hsa-miR-4423-5p	CLIP-seq
MIRT1469904	hsa-miR-4426	CLIP-seq
MIRT2141352	hsa-miR-4436a	CLIP-seq
MIRT1469905	hsa-miR-4438	CLIP-seq
MIRT2362271	hsa-miR-4448	CLIP-seq
MIRT1469906	hsa-miR-4454	CLIP-seq
MIRT2362272	hsa-miR-4471	CLIP-seq
MIRT2362273	hsa-miR-452	CLIP-seq
MIRT2362274	hsa-miR-4526	CLIP-seq
MIRT2362275	hsa-miR-4632	CLIP-seq
MIRT2362276	hsa-miR-4639-3p	CLIP-seq
MIRT2362277	hsa-miR-4641	CLIP-seq
MIRT2141353	hsa-miR-4646-3p	CLIP-seq
MIRT1469910	hsa-miR-4647	CLIP-seq
MIRT1469911	hsa-miR-4662a-5p	CLIP-seq
MIRT1469912	hsa-miR-4662b	CLIP-seq
MIRT1469914	hsa-miR-4668-5p	CLIP-seq
MIRT2362278	hsa-miR-4676-3p	CLIP-seq
MIRT1469915	hsa-miR-4695-3p	CLIP-seq
MIRT2362279	hsa-miR-4707-3p	CLIP-seq
MIRT2141355	hsa-miR-4719	CLIP-seq
MIRT2141356	hsa-miR-4726-3p	CLIP-seq
MIRT2362280	hsa-miR-4735-5p	CLIP-seq
MIRT1469920	hsa-miR-4763-3p	CLIP-seq
MIRT2141357	hsa-miR-4775	CLIP-seq
MIRT2362281	hsa-miR-4793-5p	CLIP-seq
MIRT2362282	hsa-miR-4794	CLIP-seq
MIRT2362283	hsa-miR-4797-3p	CLIP-seq
MIRT2141358	hsa-miR-488	CLIP-seq
MIRT1469922	hsa-miR-5095	CLIP-seq
MIRT2362284	hsa-miR-5096	CLIP-seq
MIRT2362285	hsa-miR-513a-5p	CLIP-seq
MIRT2141359	hsa-miR-590-3p	CLIP-seq
MIRT2362286	hsa-miR-622	CLIP-seq
MIRT2362287	hsa-miR-656	CLIP-seq
MIRT2141360	hsa-miR-664	CLIP-seq
MIRT2362288	hsa-miR-670	CLIP-seq
MIRT2141329	hsa-miR-122	CLIP-seq
MIRT2141330	hsa-miR-1238	CLIP-seq
MIRT2141331	hsa-miR-1286	CLIP-seq
MIRT2141338	hsa-miR-3135	CLIP-seq
MIRT1469880	hsa-miR-3150a-3p	CLIP-seq
MIRT1469882	hsa-miR-3175	CLIP-seq
MIRT2141340	hsa-miR-3198	CLIP-seq
MIRT2141341	hsa-miR-361-3p	CLIP-seq
MIRT1469888	hsa-miR-3622b-5p	CLIP-seq
MIRT2141343	hsa-miR-3688-5p	CLIP-seq
MIRT2362265	hsa-miR-4258	CLIP-seq
MIRT2141347	hsa-miR-4309	CLIP-seq
MIRT2141348	hsa-miR-4318	CLIP-seq
MIRT2141352	hsa-miR-4436a	CLIP-seq
MIRT1469905	hsa-miR-4438	CLIP-seq
MIRT1469915	hsa-miR-4695-3p	CLIP-seq
MIRT2362279	hsa-miR-4707-3p	CLIP-seq
MIRT2141356	hsa-miR-4726-3p	CLIP-seq
MIRT1469922	hsa-miR-5095	CLIP-seq
MIRT1469943	hsa-miR-939	CLIP-seq
MIRT2462816	hsa-miR-129-5p	CLIP-seq
MIRT2462817	hsa-miR-3149	CLIP-seq
MIRT1469898	hsa-miR-411	CLIP-seq
MIRT2362280	hsa-miR-4735-5p	CLIP-seq
MIRT2141357	hsa-miR-4775	CLIP-seq
MIRT2362282	hsa-miR-4794	CLIP-seq
MIRT2141359	hsa-miR-590-3p	CLIP-seq
MIRT2656069	hsa-miR-1178	CLIP-seq
MIRT2141329	hsa-miR-122	CLIP-seq
MIRT2362247	hsa-miR-1292	CLIP-seq
MIRT2656070	hsa-miR-137	CLIP-seq
MIRT2362250	hsa-miR-149	CLIP-seq
MIRT1469869	hsa-miR-2276	CLIP-seq
MIRT2141333	hsa-miR-23a	CLIP-seq
MIRT2141334	hsa-miR-23b	CLIP-seq
MIRT2141335	hsa-miR-23c	CLIP-seq
MIRT2362256	hsa-miR-3064-5p	CLIP-seq
MIRT2141339	hsa-miR-3153	CLIP-seq
MIRT2141340	hsa-miR-3198	CLIP-seq
MIRT1469885	hsa-miR-345	CLIP-seq
MIRT2362261	hsa-miR-3591-3p	CLIP-seq
MIRT2141341	hsa-miR-361-3p	CLIP-seq
MIRT1469888	hsa-miR-3622b-5p	CLIP-seq
MIRT2141342	hsa-miR-3667-3p	CLIP-seq
MIRT1469896	hsa-miR-3919	CLIP-seq
MIRT2141345	hsa-miR-4261	CLIP-seq
MIRT2362266	hsa-miR-4264	CLIP-seq
MIRT2141347	hsa-miR-4309	CLIP-seq
MIRT2362272	hsa-miR-4471	CLIP-seq
MIRT1469908	hsa-miR-4522	CLIP-seq
MIRT2656071	hsa-miR-4639-5p	CLIP-seq
MIRT1469914	hsa-miR-4668-5p	CLIP-seq
MIRT1469915	hsa-miR-4695-3p	CLIP-seq
MIRT1469917	hsa-miR-4714-5p	CLIP-seq
MIRT2141355	hsa-miR-4719	CLIP-seq
MIRT2141356	hsa-miR-4726-3p	CLIP-seq
MIRT1469919	hsa-miR-4756-3p	CLIP-seq
MIRT2362282	hsa-miR-4794	CLIP-seq
MIRT2362286	hsa-miR-622	CLIP-seq
MIRT2656072	hsa-miR-639	CLIP-seq
MIRT2656073	hsa-miR-720	CLIP-seq
MIRT2656069	hsa-miR-1178	CLIP-seq
MIRT2141329	hsa-miR-122	CLIP-seq
MIRT2141330	hsa-miR-1238	CLIP-seq
MIRT2656070	hsa-miR-137	CLIP-seq
MIRT2362250	hsa-miR-149	CLIP-seq
MIRT2141332	hsa-miR-185	CLIP-seq
MIRT2362256	hsa-miR-3064-5p	CLIP-seq
MIRT2141336	hsa-miR-3117-5p	CLIP-seq
MIRT2141339	hsa-miR-3153	CLIP-seq
MIRT2141340	hsa-miR-3198	CLIP-seq
MIRT2141341	hsa-miR-361-3p	CLIP-seq
MIRT1469888	hsa-miR-3622b-5p	CLIP-seq
MIRT2141343	hsa-miR-3688-5p	CLIP-seq
MIRT2141345	hsa-miR-4261	CLIP-seq
MIRT2362266	hsa-miR-4264	CLIP-seq
MIRT2141346	hsa-miR-4306	CLIP-seq
MIRT2141347	hsa-miR-4309	CLIP-seq
MIRT2141348	hsa-miR-4318	CLIP-seq
MIRT2141351	hsa-miR-4428	CLIP-seq
MIRT2656071	hsa-miR-4639-5p	CLIP-seq
MIRT1469914	hsa-miR-4668-5p	CLIP-seq
MIRT1469915	hsa-miR-4695-3p	CLIP-seq
MIRT2141355	hsa-miR-4719	CLIP-seq
MIRT2141356	hsa-miR-4726-3p	CLIP-seq
MIRT2362282	hsa-miR-4794	CLIP-seq
MIRT2141358	hsa-miR-488	CLIP-seq
MIRT2362286	hsa-miR-622	CLIP-seq
MIRT2656072	hsa-miR-639	CLIP-seq
MIRT2656073	hsa-miR-720	CLIP-seq

Show/Hide all (41)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IBA
GO:0000139	Component	Golgi membrane	IDA	23374346
GO:0000139	Component	Golgi membrane	IEA
GO:0004659	Function	Prenyltransferase activity	EXP	20953171, 25874989
GO:0004659	Function	Prenyltransferase activity	IBA
GO:0004659	Function	Prenyltransferase activity	IDA	20953171
GO:0004659	Function	Prenyltransferase activity	IEA
GO:0005515	Function	Protein binding	IPI	23169578, 30518913, 32296183, 33961781
GO:0005634	Component	Nucleus	IDA	11314041
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IDA	11314041
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IEA
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA	20953171
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005794	Component	Golgi apparatus	IEA
GO:0006744	Process	Ubiquinone biosynthetic process	IBA
GO:0006744	Process	Ubiquinone biosynthetic process	IEA
GO:0006744	Process	Ubiquinone biosynthetic process	IMP	23374346
GO:0009233	Process	Menaquinone metabolic process	IEA
GO:0009234	Process	Menaquinone biosynthetic process	IBA
GO:0009234	Process	Menaquinone biosynthetic process	IEA
GO:0009234	Process	Menaquinone biosynthetic process	IMP	23169578
GO:0012505	Component	Endomembrane system	IEA
GO:0016020	Component	Membrane	IDA	11314041
GO:0016020	Component	Membrane	IEA
GO:0016209	Function	Antioxidant activity	IMP	23374346
GO:0016740	Function	Transferase activity	IEA
GO:0016765	Function	Transferase activity, transferring alkyl or aryl (other than methyl) groups	IEA
GO:0031090	Component	Organelle membrane	IEA
GO:0031966	Component	Mitochondrial membrane	IEA
GO:0042371	Process	Vitamin K biosynthetic process	IBA
GO:0042371	Process	Vitamin K biosynthetic process	IDA	20953171
GO:0042371	Process	Vitamin K biosynthetic process	IMP	23169578
GO:0042373	Process	Vitamin K metabolic process	IEA
GO:0042373	Process	Vitamin K metabolic process	TAS
GO:0098869	Process	Cellular oxidant detoxification	IEA

MIM	HGNC	e!Ensembl
611632	30791	ENSG00000120942

Q9Y5Z9

Protein name

UbiA prenyltransferase domain-containing protein 1 (EC 2.5.1.-) (EC 2.5.1.39) (Transitional epithelial response protein 1)

Protein function

Prenyltransferase that mediates the formation of menaquinone-4 (MK-4) and coenzyme Q10 (PubMed:20953171, PubMed:23374346). MK-4 is a vitamin K2 isoform present at high concentrations in the brain, kidney and pancreas, and is required for endothe

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01040	UbiA	61 → 328	UbiA prenyltransferase family	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:11314041}.

Sequence

MAASQVLGEKINILSGETVKAGDRDPLGNDCPEQDRLPQRSWRQKCASYVLALRPWSFSA
SLTPVALGSALAYRSHGVLDPRLLVGCAVAVLAVHGAGNLVNTYYDFSKGIDHKKSDDRT
LVDRILEPQDVVRFGVFLYTLGCVCAACLYYLSPLKLEHLALIYFGGLSGSFLYTGGIGF
KYVALGDLIILITFGPLAVMFAYAIQVGSLAIFPLVYAIPLALSTEAILHSNNTRDMESD
REAGIVTLAILIGPTFSYILYNTLLFLPYLVFSILATHCTISLALPLLTIPMAFSLERQF
RSQAFNKLPQRTAKLNLLLGLFYVFGIILAPAGSLPKI

Sequence length

338

Interactions

View interactions

	Reactome
			Metabolism of vitamin K

118

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Schnyder crystalline corneal dystrophy	Likely pathogenic; Pathogenic	rs371811409, rs118203945, rs118203946, rs118203947, rs118203948, rs118203949, rs118203950, rs118203951, rs118203952, rs118203953, rs397514669	RCV001731228 RCV000000904 RCV000000905 RCV000000906 RCV000000907 RCV000000908 RCV000000909 RCV000000910 RCV000000911 RCV000000912 RCV000034310

Show/Hide Unknown Diseases (15)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs11580061	RCV005891463
Cervical cancer	Benign	rs11580061, rs72856992	RCV005891465 RCV005891456
Cholangiocarcinoma	Benign	rs11580061	RCV005891469
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	rs11580061	RCV005891471
Familial pancreatic carcinoma	Benign	rs11580061	RCV005891466
Gastric cancer	Benign	rs11580061	RCV005891468
Lung cancer	Benign	rs11580061, rs72856992	RCV005891470 RCV005891461
Malignant tumor of esophagus	Benign	rs72856992	RCV005891455
Nonpapillary renal cell carcinoma	Benign	rs11580061	RCV005891464
Sarcoma	Benign	rs11580061, rs72856992	RCV005891467 RCV005891458
Thymoma	Benign	rs72856992	RCV005891459
Thyroid cancer, nonmedullary, 1	Benign	rs72856992	RCV005891460
UBIAD1-related disorder	Benign; Uncertain significance; Likely benign	rs138443305, rs2523566293, rs772156947	RCV003910054 RCV003402916 RCV003901480
Uterine corpus endometrial carcinoma	Benign	rs72856992	RCV005891462
Uveal melanoma	Benign	rs72856992	RCV005891457

Show/Hide Text Mining Associations (16)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Arcus Senilis	Associate	30223810
Calcinosis	Inhibit	26890002
Cardiovascular Diseases	Associate	23977195
Cholangiocarcinoma	Associate	34211100
Corneal Diseases	Associate	19649163
Corneal Dystrophy Crystalline of Schnyder	Associate	19399176, 19649163, 20505825, 23169578, 23977195, 25742604, 30084067, 30223810, 32188638, 32602245
Dyslipidemias	Associate	30223810
Eye Diseases	Associate	20505825
Melanoma	Associate	35255427
Neoplasms	Inhibit	23919967, 23977195
Parkinson Disease	Associate	23977195
Prostatic Neoplasms	Inhibit	23919967
Prostatic Neoplasms Castration Resistant	Associate	23919967
Urinary Bladder Neoplasms	Inhibit	23977195
Vascular Calcification	Associate	26890002
Vision Disorders	Associate	23169578

UBIAD1 (UbiA prenyltransferase domain containing 1)